Non-malignant haematological and haemostasis disorders GeCIP Domain

Description

The blood is one of the most complicated parts of the human body. We rely on red blood cells to carry oxygen around the body. An array of specialised white blood cells together with tiny cell fragments called platelets protect us from bleeding by clumping together with special clotting proteins when a cut occurs and induce repair if the vessel wall is damaged. To produce this complex system, each cell relies on detailed instructions in the form of DNA. Spelling mistakes in DNA can cause disease such as bleeding, thrombus formation or anaemia.

To treat patients better and advise families we need to uncover the underlying genetic spelling mistakes. This used to be an almost impossible task, but with new techniques we can read the entire DNA code of individual patients. This is called their genome; every person’s genome is unique. Researchers and doctors are still learning how to make sense of all the information it contains and especially how to identify which genetic changes cause disease. In this domain, researchers will focus on studying the genomes of patients with blood, bleeding and clotting problems. We hope to learn more about which genes are important for blood cells and the clotting system and how they work. Together with patients we will work to bring better DNA tests to the NHS so that families can be helped quicker. Eventually new treatments may become available, but this generally takes a very long time.


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